(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the ITCH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering ITCH transcript NM_031483.5.
(upstream sequence)
. . . g.1033
gcgctcaggcgcctgcgctttagctgctaactc c.-181
. . . . . . g.1093
gctctagtagctgtggtcggggctcgggaccggctgccatcttagtctagggactgagga c.-121
. . . | 02 . . . g.7197
gtcgccgccgccccgagtcccg | gtaccatgcatttcacggtggccttgtggagacaacgc c.-61
. . . . | 03 . g.31577
cttaacccaaggaagtgactcaaactgtgagaacttcag | gttttccaacctattggtggt c.-1
. . . . . . g.31637
ATGTCTGACAGTGGATCACAACTTGGTTCAATGGGTAGCCTCACCATGAAATCACAGCTT c.60
M S D S G S Q L G S M G S L T M K S Q L p.20
. | 04 . . . . . g.46466
CAGATCACTG | TCATCTCAGCAAAACTTAAGGAAAATAAGAAGAATTGGTTTGGACCAAGT c.120
Q I T V | I S A K L K E N K K N W F G P S p.40
. . . . . . g.46526
CCTTACGTAGAGGTCACAGTAGATGGACAGTCAAAGAAGACAGAAAAATGCAACAACACA c.180
P Y V E V T V D G Q S K K T E K C N N T p.60
. . . | 05 . . . g.50308
AACAGTCCCAAGTGGAAGCAACCCCTTACAGT | TATCGTTACCCCTGTGAGTAAATTACAT c.240
N S P K W K Q P L T V | I V T P V S K L H p.80
. . . . . . g.50368
TTTCGTGTGTGGAGTCACCAGACACTGAAATCTGATGTTTTGTTGGGAACTGCTGCATTA c.300
F R V W S H Q T L K S D V L L G T A A L p.100
. . . | 06. . . g.51530
GATATTTATGAAACATTAAAGTCAAACAATATGAAAC | TTGAAGAAGTAGTTGTGACTTTG c.360
D I Y E T L K S N N M K L | E E V V V T L p.120
. . . . . . g.51590
CAGCTTGGAGGTGACAAAGAGCCAACAGAGACAATAGGAGACTTGTCAATTTGTCTTGAT c.420
Q L G G D K E P T E T I G D L S I C L D p.140
. . . . . | 07 . g.62250
GGGCTACAGTTAGAGTCTGAAGTTGTTACCAATGGTGAAACTACATGTTCAGAAA | GTGCT c.480
G L Q L E S E V V T N G E T T C S E S | A p.160
. . . . | 08 . . g.76257
TCTCAGAATGATGATGGCTCCAGATCCAAGGATGAAACAAG | AGTGAGCACAAATGGATCA c.540
S Q N D D G S R S K D E T R | V S T N G S p.180
. . . . . . g.76317
GATGACCCTGAAGATGCAGGAGCTGGTGAAAATAGGAGAGTCAGTGGGAATAATTCTCCA c.600
D D P E D A G A G E N R R V S G N N S P p.200
. . . . . . g.76377
TCACTCTCAAATGGTGGTTTTAAACCTTCTAGACCTCCAAGACCTTCACGACCACCACCA c.660
S L S N G G F K P S R P P R P S R P P P p.220
. | 09 . . . . g.77960
CCCACCCCACGTAGACCAG | CATCTGTCAATGGTTCACCATCTGCCACTTCTGAAAGTGAT c.720
P T P R R P A | S V N G S P S A T S E S D p.240
. . . . . . g.78020
GGGTCTAGTACAGGCTCTCTGCCGCCGACAAATACAAATACAAATACATCTGAAGGAGCA c.780
G S S T G S L P P T N T N T N T S E G A p.260
. . . . . . g.78080
ACATCTGGATTAATAATTCCTCTTACTATATCTGGAGGCTCAGGCCCTAGGCCATTAAAT c.840
T S G L I I P L T I S G G S G P R P L N p.280
. . | 10 . . . g.80003
CCTGTAACTCAAGCTCCCTTGCCACCTGG | TTGGGAGCAGAGAGTGGACCAGCACGGGCGA c.900
P V T Q A P L P P G | W E Q R V D Q H G R p.300
. . . . . . g.80063
GTTTACTATGTAGATCATGTTGAGAAAAGAACAACATGGGATAGACCAGAACCTCTACCT c.960
V Y Y V D H V E K R T T W D R P E P L P p.320
| 11 . . . . . . g.83106
CCTGG | CTGGGAACGGCGGGTTGACAACATGGGACGTATTTATTATGTTGACCATTTCACA c.1020
P G | W E R R V D N M G R I Y Y V D H F T p.340
. . . . . . g.83166
AGAACAACAACGTGGCAGAGGCCAACACTGGAATCCGTCCGGAACTATGAACAATGGCAG c.1080
R T T T W Q R P T L E S V R N Y E Q W Q p.360
. . . . . . g.83226
CTACAGCGTAGTCAGCTTCAAGGAGCAATGCAGCAGTTTAACCAGAGATTCATTTATGGG c.1140
L Q R S Q L Q G A M Q Q F N Q R F I Y G p.380
| 12 . . . . . . g.87235
| AATCAAGATTTATTTGCTACATCACAAAGTAAAGAATTTGATCCTCTTGGTCCATTGCCA c.1200
| N Q D L F A T S Q S K E F D P L G P L P p.400
. | 13 . . . . . g.95204
CCTGGATGGG | AGAAGAGAACAGACAGCAATGGCAGAGTATATTTCGTCAACCACAACACA c.1260
P G W E | K R T D S N G R V Y F V N H N T p.420
. . . | 14 . . . g.99882
CGAATTACACAATGGGAAGACCCCAGAAGTCAAGG | TCAATTAAATGAAAAGCCCTTACCT c.1320
R I T Q W E D P R S Q G | Q L N E K P L P p.440
. . . . . . g.99942
GAAGGTTGGGAAATGAGATTCACAGTGGATGGAATTCCATATTTTGTGGACCACAATAGA c.1380
E G W E M R F T V D G I P Y F V D H N R p.460
. . . . | 15 . . g.107828
AGAACTACCACCTATATAGATCCCCGCACAGGAAAATCTGCCCT | AGACAATGGACCTCAG c.1440
R T T T Y I D P R T G K S A L | D N G P Q p.480
. . . . . | 16. g.109211
ATAGCCTATGTTCGGGACTTCAAAGCAAAGGTTCAGTATTTCCGGTTCTGGTGTCAG | CAA c.1500
I A Y V R D F K A K V Q Y F R F W C Q | Q p.500
. . . . . . g.109271
CTGGCCATGCCACAGCACATAAAGATTACAGTGACAAGAAAAACATTGTTTGAGGATTCC c.1560
L A M P Q H I K I T V T R K T L F E D S p.520
| 17 . . . . . g.115587
TTTCAACAG | ATAATGAGCTTCAGTCCCCAAGATCTGCGAAGACGTTTGTGGGTGATTTTT c.1620
F Q Q | I M S F S P Q D L R R R L W V I F p.540
. . . | 18 . . g.117416
CCAGGAGAAGAAGGTTTAGATTATGGAGGTGTAGCAAG | AGAATGGTTCTTTCTTTTGTCA c.1680
P G E E G L D Y G G V A R | E W F F L L S p.560
. . . . . . g.117476
CATGAAGTGTTGAACCCAATGTATTGCCTGTTTGAATATGCAGGGAAGGATAACTACTGC c.1740
H E V L N P M Y C L F E Y A G K D N Y C p.580
. . . . . . g.117536
TTGCAGATAAACCCCGCTTCTTACATCAATCCAGATCACCTGAAATATTTTCGTTTTATT c.1800
L Q I N P A S Y I N P D H L K Y F R F I p.600
. | 19 . . . . g.118405
GGCAGATTTATTGCCATG | GCTCTGTTCCATGGGAAATTCATAGACACGGGTTTTTCTTTA c.1860
G R F I A M | A L F H G K F I D T G F S L p.620
. . . . . . g.118465
CCATTCTATAAGCGTATCTTGAACAAACCAGTTGGACTCAAGGATTTAGAATCTATTGAT c.1920
P F Y K R I L N K P V G L K D L E S I D p.640
. . . | 20 . . . g.118858
CCAGAATTTTACAATTCTCTCATCTGGGTTAA | GGAAAACAATATTGAGGAATGTGATTTG c.1980
P E F Y N S L I W V K | E N N I E E C D L p.660
. . . . . . g.118918
GAAATGTACTTCTCCGTTGACAAAGAAATTCTAGGTGAAATTAAGAGTCATGATCTGAAA c.2040
E M Y F S V D K E I L G E I K S H D L K p.680
. . . . . | 21 . g.127037
CCTAATGGTGGCAATATTCTTGTAACAGAAGAAAATAAAGAGGAATACATCAG | AATGGTA c.2100
P N G G N I L V T E E N K E E Y I R | M V p.700
. . . . . . g.127097
GCTGAGTGGAGGTTGTCTCGAGGTGTTGAAGAACAGACACAAGCTTTCTTTGAAGGCTTT c.2160
A E W R L S R G V E E Q T Q A F F E G F p.720
. . . . . | 22 . g.127592
AATGAAATTCTTCCCCAGCAATATTTGCAATACTTTGATGCAAAGGAATTAGAG | GTCCTT c.2220
N E I L P Q Q Y L Q Y F D A K E L E | V L p.740
. . . . . . g.127652
TTATGTGGAATGCAAGAGATTGATTTGAATGACTGGCAAAGACATGCCATCTACCGTCAT c.2280
L C G M Q E I D L N D W Q R H A I Y R H p.760
. . . | 23 . . g.130286
TATGCAAGGACCAGCAAACAAATCATGTGGTTTTGGCAG | TTTGTTAAAGAAATTGATAAT c.2340
Y A R T S K Q I M W F W Q | F V K E I D N p.780
. . . . . . g.130346
GAGAAGAGAATGAGACTTCTGCAGTTTGTTACTGGAACCTGCCGATTGCCAGTAGGAGGA c.2400
E K R M R L L Q F V T G T C R L P V G G p.800
. | 24 . . . . . g.142139
TTTGCTGATCTCATGG | GGAGCAATGGACCACAGAAATTCTGCATTGAAAAAGTTGGGAAA c.2460
F A D L M G | S N G P Q K F C I E K V G K p.820
. . | 25 . . . g.145490
GAAAATTGGCTACCCAGAAGTCATACCTG | TTTTAATCGCCTGGACCTGCCACCATACAAG c.2520
E N W L P R S H T C | F N R L D L P P Y K p.840
. . . . . . g.145550
AGCTATGAGCAACTGAAGGAAAAGCTGTTGTTTGCCATAGAAGAAACAGAAGGATTTGGA c.2580
S Y E Q L K E K L L F A I E E T E G F G p.860
g.145559
CAAGAGTAA c.2589
Q E X p.862
. . . . . . g.145619
cttctgagaacttgcaccatgaatgggcaagaacttatttgcaatgtttgtccttctctg c.*60
. . . . . . g.145679
cctgttgcacatcttgtaaaattggacaatggctctttagagagttatctgagtgtaagt c.*120
. . . . . . g.145739
aaattaatgttctcatttagatttatctcccagtgatttctactcagcgtttccagaaat c.*180
. . . . . . g.145799
caggtctgcaaatgactagtcagaaccttgcttaacatgagattttaacacaacaatgaa c.*240
. . . . . . g.145859
atttgccttgtcttattccactagtttattcctttaacaacaatattttatgtgtgtcaa c.*300
. . . . . . g.145919
aagtctcacttgggagtagtgtttttttcttttagacattctgcagacatgcagggaagt c.*360
. . . . . . g.145979
cctttggtaactgcaatatacaagattttcctattaagcctcttggtaagaggcatttgt c.*420
. . . . . . g.146039
taaaagtgcaagcttactcctgcttctggggatgtgagcaaaattcgggcttgtgttctc c.*480
. . . . . . g.146099
cctctcattttagtctgacttgactattgtttttcctttctggcgcatgaatccatacat c.*540
. . . . . . g.146159
cattcctggaagtgaggcaagactcttgcatctctacaaagtagttttgtcaatttgaat c.*600
. . . . . . g.146219
tcagggaaaagttggtcacagcctgcaaatgacttcatttggaagtctgattgtttcagt c.*660
. . . . . . g.146279
tgcctgacaaatactacactttacaaacaatgttaacactgtgattccttcattgtttta c.*720
. . . . . . g.146339
agaagttaacctagggccgggcatggtggctcatacctgtaatcctagcactctgggagg c.*780
. . . . . . g.146399
ccgaggcaggaggatccctttagcccaggagttaaagaccagcctgggcaacatagggag c.*840
. . . . . . g.146459
accctgtcttttttttgggcagcgtggtgggggataaataaataaaaggaaaaaaaactt c.*900
. . . . . . g.146519
agcctagaattagaattaatttaattgaattcatctaaagatgtctctggtgatttttat c.*960
. . . . . . g.146579
atgttccgctatataattgatgctttatagttttatcataatccaacaacttcagttata c.*1020
. . . . . . g.146639
tttaattattgttaaggagtttaagactagaaagactagagtgctttctagtccaaatag c.*1080
. . . . . . g.146699
aggtcagtgaaacagcttttgacatcagattttcatttgagagggagagctgtggtactg c.*1140
. . . . . . g.146759
gctaaaaagaaaggaagataacatccagtaaccacaggaatatattctctgtgaattaaa c.*1200
. . . . . . g.146819
agtcttcaaagttatcatttctctgacatatgttggagtagtcatttccattctttacat c.*1260
. . . . . . g.146879
tgtcatgaactggattgataaccctcatctgcaatattttcacccctaaaatttttaaca c.*1320
. . . . . . g.146939
gggtttcctttttttctcacgactatttaagtttagattgctccattattaactgattaa c.*1380
. . . . . . g.146999
tgcactttgaagttctctggaattaattattttaacttggcctagcttcgactgtcaagg c.*1440
. . . . . . g.147059
tggctgttataaatttgacttcattggcagtggatgaagcctaagccagctgagtctcta c.*1500
. . . . . . g.147119
tcatagctgaaccctgaggacagcctcatagctcatgtatcagggacttttgccacattt c.*1560
. . . . . . g.147179
cagaggcatagcatgaacaagtaatattaagccaagaataagcagcagaaccctgttcca c.*1620
. . . . . . g.147239
tatggaaaaaagaaaaacaattttttgtccctaatgttcttccttttacatcctggaaca c.*1680
. . . . . . g.147299
acaataaaaacatttttttaaacttgtctactgtaagatactgccatcataaagcagaga c.*1740
. . . . . . g.147359
cttacatgagtgaaagggttgcctcatcaagcagctcagtgtaaatggggaggctaggct c.*1800
. . . . . . g.147419
ctccccagccctatggtttttttatttcatgtaccccaggaaatactgtgtggtttctaa c.*1860
. . . . . . g.147479
aagccctggttgttaaaagtagggactctgcctttttgttggtagggagaaaaaacgcta c.*1920
. . . . . . g.147539
ttgctttgtcttacagagcgaatgtctgccaactacccgttcattatataagtctgaact c.*1980
. . . . . . g.147599
tggtaatatatggctaatgaagattaagccctctataaagacttcctgttgaggtgaatt c.*2040
. . . . . . g.147659
ctcatactgaaatgtagttacctacaatatttactagagatttatgaaattaaattaaga c.*2100
. . . . . . g.147719
gataatgtaagaaaatacatttttttggttctatataatgcttcatgattcatttaggga c.*2160
. . . . . . g.147779
cctagaaatattgtgtgaaaatatataaatatcacccaaaaggctttctgccctatattt c.*2220
. . . . . . g.147839
ttaaaatacagaatagttatatttgaagtagccctggccctagttctatagggcttggct c.*2280
. . . . . . g.147899
atttaatatttttatggaagaagtgtttagttctggaaaaggtaaatgcttgtatatatt c.*2340
. . . . . . g.147959
tttgcagcctgggatctccctactccattttttcctttaatttaagtggccacatgtata c.*2400
. . . . . . g.148019
tgtcttccctgctgtgttaggaaaatgggggctggatatcccaagaatcagaggttatat c.*2460
. . . . . . g.148079
aaaaatactgcaaatagaccgcagacataaatatctaccaaatgctatcttaaattttgg c.*2520
. . . . . . g.148139
tccaaactgaacatatggaaatagatttattgtaagtatttacttagagctttttcttaa c.*2580
. . . . . . g.148199
atctgaactaacttgcttttagaagtctttttctttgtaagcattgtaaatgctaataaa c.*2640
. . . . . . g.148259
tcctgttaatttttttttttttttttttttttttttactgcatgttacattgaaataaaa c.*2700
. . . . . . g.148319
acaaagtaaaatgagcaattgccttattgttctgctcttttgcagggggtgggggttggg c.*2760
. . . . . . g.148379
gaagacagcattccacagcctggtcaggagggaaggacctcacttgtttcatcaaatgga c.*2820
. . . . . . g.148439
gtggtttaaaactgatcaagcagctcataataatgaattcctgctctgtcttttattatc c.*2880
. . . . . . g.148499
ttatgtcagagtgcagcaaaatctcatttcataagacttacaataactctatttaaaatt c.*2940
. . . . . . g.148559
caggtattgtactcgggaggctgaggtgggaggatcccaggagttcaaatcctgcctggg c.*3000
. . . . . . g.148619
caacatagcaagaccctgtctcttaaaaaaacaaaaagacatattcaggtactgattttt c.*3060
. . . . . . g.148679
catcaagagattgacataccaatgatcagaaattttagtgaaacttgactcaactataca c.*3120
. . . . . . g.148739
caaagttctcatcctaaatgaactatttcagtcaagcccactctaccactttttacttat c.*3180
. . . . . . g.148799
ctggttaataatccgaaatgttaccggggttgactcacggaattaaatttttcctctatt c.*3240
. . . . . . g.148859
tttatatcctttcctgttgtggatgtaacttacctttctaaactcctttagagttaacga c.*3300
. . . . . . g.148919
cttctatttagtattgttggtatctccagcccccctcctttttttgtttttcttttagtt c.*3360
. . . . . . g.148979
atttactttgtttgtataatttgctttcattaactaaaaatggaattggcagcactggat c.*3420
. . . . . . g.149039
tgtatattactgtattaagagtacctttgttttcttgatctgttacttttaatactcagg c.*3480
. . . . . . g.149099
taatgctacaaatattacagggagtcaaatgcttttataaagttccttcagtggttgcct c.*3540
. . . . . g.149158
cacttgcgttttcctacaagatgtaagactgtttataattaaacttttttggtccttca c.*3599
(downstream sequence)
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